Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.

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Title: Mapping the diagnostic odyssey of congenital disorders of glycosylation (CDG): insights from the community.
Authors: Granjo, Pedro1,2,3 (AUTHOR), Pascoal, Carlota1,2,3,4 (AUTHOR), Gallego, Diana5,6 (AUTHOR), Francisco, Rita3,4 (AUTHOR), Jaeken, Jaak3,7 (AUTHOR), Moors, Tristen8 (AUTHOR), Edmondson, Andrew C.9 (AUTHOR), Kantautas, Kristin A.10 (AUTHOR), Serrano, Mercedes11 (AUTHOR), Videira, Paula A.1,2,3,4 (AUTHOR) p.videira@fct.unl.pt, dos Reis Ferreira, Vanessa1,2,3,4 (AUTHOR) sindromecdg@gmail.com
Source: Orphanet Journal of Rare Diseases. 11/1/2024, Vol. 19 Issue 1, p1-17. 17p.
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  Data: <searchLink fieldCode="JN" term="%22Orphanet+Journal+of+Rare+Diseases%22">Orphanet Journal of Rare Diseases</searchLink>. 11/1/2024, Vol. 19 Issue 1, p1-17. 17p.
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        Value: 10.1186/s13023-024-03389-2
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              Text: 11/1/2024
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